6601[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2643069	NM_001330288.2(SMARCC2):c.3699G>A (p.Pro1233=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 219351	NM_001330288.2(SMARCC2):c.3670A>C (p.Thr1224Pro)	SMARCC2 (T1109P +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 1283609	NM_001330288.2(SMARCC2):c.3662-39C>T	SMARCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1701781	NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr)	SMARCC2 (A1167T +1 more)	Single nucleotide variant (missense variant +1 more)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2643070	NM_001330288.2(SMARCC2):c.3591C>T (p.Ala1197=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2575626	NM_001330288.2(SMARCC2):c.3575C>T (p.Pro1192Leu)	SMARCC2 (P1161L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2575760	NM_001330288.2(SMARCC2):c.3564G>T (p.Leu1188Phe)	SMARCC2 (L1157F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643071	NM_001330288.2(SMARCC2):c.3527C>G (p.Pro1176Arg)	SMARCC2 (P1145R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643072	NM_001330288.2(SMARCC2):c.3513G>A (p.Ala1171=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257500	NM_001330288.2(SMARCC2):c.3508A>G (p.Met1170Val)	SMARCC2 (M1139V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2281422	NM_001330288.2(SMARCC2):c.3500C>T (p.Pro1167Leu)	SMARCC2 (P1136L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250721	NM_001330288.2(SMARCC2):c.3487C>T (p.Pro1163Ser)	SMARCC2 (P1132S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3041943	NM_001330288.2(SMARCC2):c.3487C>G (p.Pro1163Ala)	SMARCC2 (P1132A +1 more)	Single nucleotide variant (missense variant +1 more)	SMARCC2-related disorder	GLikely benign
Select item 2349090	NM_001330288.2(SMARCC2):c.3430C>G (p.Pro1144Ala)	SMARCC2 (P1144A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2341539	NM_001330288.2(SMARCC2):c.3427G>A (p.Ala1143Thr)	SMARCC2 (A1112T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389377	NM_001330288.2(SMARCC2):c.3397C>G (p.Leu1133Val)	SMARCC2 (L1102V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2507299	NM_001330288.2(SMARCC2):c.3388T>G (p.Phe1130Val)	SMARCC2 (F1099V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722383	NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)	SMARCC2 (I1097fs +1 more)	Deletion (frameshift variant +1 more)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 979193	NM_001330288.2(SMARCC2):c.3366_3374dup (p.Pro1123_Pro1125dup)	SMARCC2	Duplication (inframe_insertion +1 more)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2444575	NM_001330288.2(SMARCC2):c.3364C>T (p.Pro1122Ser)	SMARCC2 (P1091S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576084	NM_001330288.2(SMARCC2):c.3361C>T (p.Pro1121Ser)	SMARCC2 (P1090S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675503	NM_001330288.2(SMARCC2):c.3354T>G (p.Pro1118=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1711343	NM_001330288.2(SMARCC2):c.3351G>A (p.Pro1117=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2375394	NM_001330288.2(SMARCC2):c.3310G>A (p.Val1104Met)	SMARCC2 (V1104M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663324	NM_001330288.2(SMARCC2):c.3286G>A (p.Val1096Met)	SMARCC2 (V1065M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574256	NM_001330288.2(SMARCC2):c.3284C>T (p.Ala1095Val)	SMARCC2 (A1064V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320835	NM_001330288.2(SMARCC2):c.3274A>T (p.Met1092Leu)	SMARCC2 (M1061L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354554	NM_001330288.2(SMARCC2):c.3271A>G (p.Met1091Val)	SMARCC2 (M1091V +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related disorder +1 more	GLikely benign
Select item 992306	NM_001330288.2(SMARCC2):c.3269C>T (p.Ser1090Leu)	SMARCC2 (S1059L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234282	NM_001330288.2(SMARCC2):c.3265C>T (p.Pro1089Ser)	SMARCC2 (P1058S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3320834	NM_001330288.2(SMARCC2):c.3248C>G (p.Pro1083Arg)	SMARCC2 (P1052R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643073	NM_001330288.2(SMARCC2):c.3233-3C>T	SMARCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2573052	NM_001330288.2(SMARCC2):c.3232G>A (p.Gly1078Ser)	SMARCC2 (G1047S +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1029510	NM_001330288.2(SMARCC2):c.3224G>T (p.Gly1075Val)	SMARCC2 (G1075V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 992305	NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs)	SMARCC2 (G1044fs +1 more)	Deletion (frameshift variant)	SMARCC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 931614	NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs)	SMARCC2 (G1075fs +1 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 8 +1 more	GLikely pathogenic
Select item 758697	NM_001330288.2(SMARCC2):c.3222T>C (p.Pro1074=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166335	NM_001330288.2(SMARCC2):c.3221C>G (p.Pro1074Arg)	SMARCC2 (P1074R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500290	NM_001330288.2(SMARCC2):c.3221del (p.Pro1074fs)	SMARCC2 (P1043fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3051798	NM_001330288.2(SMARCC2):c.3220C>A (p.Pro1074Thr)	SMARCC2 (P1043T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1012821	NM_001330288.2(SMARCC2):c.3210_3211insAAG (p.Gly1070_Val1071insLys)	SMARCC2	Insertion (inframe_insertion)	not provided	GLikely pathogenic
Select item 1804743	NM_001330288.2(SMARCC2):c.3129G>C (p.Gln1043His)	SMARCC2 (Q1012H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2222174	NM_001330288.2(SMARCC2):c.3101C>T (p.Pro1034Leu)	SMARCC2 (P1034L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701729	NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp)	SMARCC2 (A1002D +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1213745	NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn)	SMARCC2 (S1000N +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related disorder +2 more	GUncertain significance
Select item 2555292	NM_001330288.2(SMARCC2):c.3077C>T (p.Pro1026Leu)	SMARCC2 (P1026L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679607	NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro)	SMARCC2 (A1020P +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 3166333	NM_001330288.2(SMARCC2):c.3055G>A (p.Val1019Met)	SMARCC2 (V1019M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 989296	NM_001330288.2(SMARCC2):c.3008T>A (p.Ile1003Asn)	SMARCC2 (I1003N +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related neurodevelopmental disorder	GUncertain significance
Select item 1029509	NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe)	SMARCC2 (S1000F +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GUncertain significance
Select item 2505006	NM_001330288.2(SMARCC2):c.2978C>A (p.Pro993Gln)	SMARCC2 (P962Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632861	NM_001330288.2(SMARCC2):c.2956C>A (p.His986Asn)	SMARCC2 (H955N +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related disorder	GUncertain significance
Select item 1321824	NM_001330288.2(SMARCC2):c.2932C>T (p.Arg978Trp)	SMARCC2 (R947W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234219	NM_001330288.2(SMARCC2):c.2919G>A (p.Ala973=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643074	NM_001330288.2(SMARCC2):c.2880C>T (p.Ala960=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1290487	NM_001330288.2(SMARCC2):c.2850+149GT[19]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1272097	NM_001330288.2(SMARCC2):c.2850+149GT[17]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1261566	NM_001330288.2(SMARCC2):c.2850+149GT[14]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1282449	NM_001330288.2(SMARCC2):c.2850+61GT[26]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1275357	NM_001330288.2(SMARCC2):c.2850+61GT[25]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1239403	NM_001330288.2(SMARCC2):c.2850+61GT[27]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1294960	NM_001330288.2(SMARCC2):c.2850+61GT[21]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1270276	NM_001330288.2(SMARCC2):c.2850+61GT[22]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1258395	NM_001330288.2(SMARCC2):c.2850+61GT[23]	SMARCC2	Microsatellite (intron variant)	not provided	GBenign
Select item 2575782	NM_001330288.2(SMARCC2):c.2850+4A>G	SMARCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2260772	NM_001330288.2(SMARCC2):c.2837G>A (p.Arg946Gln)	SMARCC2 (R946Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634993	NM_001330288.2(SMARCC2):c.2830A>G (p.Met944Val)	SMARCC2 (M913V +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related disorder	GUncertain significance
Select item 1310574	NM_001330288.2(SMARCC2):c.2796C>G (p.Ile932Met)	SMARCC2 (I901M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623251	NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)	SMARCC2 (M896V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 2265727	NM_001330288.2(SMARCC2):c.2772G>C (p.Glu924Asp)	SMARCC2 (E924D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 976148	NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly)	SMARCC2 (E893G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GLikely pathogenic
Select item 2570834	NM_001330288.2(SMARCC2):c.2765T>C (p.Leu922Pro)	SMARCC2 (L891P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342426	NM_001330288.2(SMARCC2):c.2716-3del	SMARCC2	Deletion (intron variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2499285	NM_001330288.2(SMARCC2):c.2689_2700del (p.Leu897_Ala900del)	SMARCC2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3339554	NM_001330288.2(SMARCC2):c.2679_2693dup (p.Ala901_Val902insLeuAlaAlaAlaAla)	SMARCC2	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 1704163	NM_001330288.2(SMARCC2):c.2693C>T (p.Ala898Val)	SMARCC2 (A867V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287589	NM_001330288.2(SMARCC2):c.2682C>T (p.Ala894=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2303583	NM_001330288.2(SMARCC2):c.2645G>A (p.Arg882Gln)	SMARCC2 (R851Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690048	NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)	SMARCC2 (G843R +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 3037386	NM_001330288.2(SMARCC2):c.2574A>G (p.Pro858=)	SMARCC2	Single nucleotide variant (synonymous variant)	SMARCC2-related disorder	GLikely benign
Select item 3166332	NM_001330288.2(SMARCC2):c.2546T>C (p.Ile849Thr)	SMARCC2 (I849T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643075	NM_001330288.2(SMARCC2):c.2523C>T (p.Ser841=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3047339	NM_001330288.2(SMARCC2):c.2506G>A (p.Asp836Asn)	SMARCC2 (D805N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3045697	NM_001330288.2(SMARCC2):c.2505C>T (p.Gly835=)	SMARCC2	Single nucleotide variant (synonymous variant)	SMARCC2-related disorder	GLikely benign
Select item 806900	NM_001330288.2(SMARCC2):c.2464A>G (p.Ser822Gly)	SMARCC2 (S791G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365865	NM_001330288.2(SMARCC2):c.2456A>G (p.Glu819Gly)	SMARCC2 (E819G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3030293	NM_001330288.2(SMARCC2):c.2447A>T (p.Glu816Val)	SMARCC2 (E785V +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related disorder	GUncertain significance
Select item 2643076	NM_001330288.2(SMARCC2):c.2440G>C (p.Glu814Gln)	SMARCC2 (E783Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400641	NM_001330288.2(SMARCC2):c.2431G>A (p.Gly811Ser)	SMARCC2 (G780S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352964	NM_001330288.2(SMARCC2):c.2420G>A (p.Arg807Gln)	SMARCC2 (R807Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257501	NM_001330288.2(SMARCC2):c.2407C>T (p.Pro803Ser)	SMARCC2 (P772S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265890	NM_001330288.2(SMARCC2):c.2371C>T (p.Arg791Trp)	SMARCC2 (R791W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136006	NM_001330288.2(SMARCC2):c.2369C>T (p.Ala790Val)	SMARCC2 (A759V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058724	NM_001330288.2(SMARCC2):c.2353A>T (p.Ser785Cys)	SMARCC2 (S754C +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related disorder	GBenign
Select item 1255146	NM_001330288.2(SMARCC2):c.2348-68_2348-65del	SMARCC2	Deletion (intron variant)	not provided	GBenign
Select item 2498562	NM_001330288.2(SMARCC2):c.2340G>C (p.Glu780Asp)	SMARCC2 (E749D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2304641	NM_001330288.2(SMARCC2):c.2336C>T (p.Pro779Leu)	SMARCC2 (P779L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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